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NM_003501.3(ACOX3):c.489C>A (p.His163Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004604272.1

Allele description [Variation Report for NM_003501.3(ACOX3):c.489C>A (p.His163Gln)]

NM_003501.3(ACOX3):c.489C>A (p.His163Gln)

Gene:
ACOX3:acyl-CoA oxidase 3, pristanoyl [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.1
Genomic location:
Preferred name:
NM_003501.3(ACOX3):c.489C>A (p.His163Gln)
HGVS:
  • NC_000004.12:g.8414346G>T
  • NM_001101667.2:c.489C>A
  • NM_001375783.1:c.489C>A
  • NM_001375784.1:c.417C>A
  • NM_001375785.1:c.489C>A
  • NM_001375786.1:c.489C>A
  • NM_001375787.1:c.489C>A
  • NM_001375788.1:c.489C>A
  • NM_001375789.1:c.204C>A
  • NM_001375790.1:c.489C>A
  • NM_003501.3:c.489C>AMANE SELECT
  • NP_001095137.1:p.His163Gln
  • NP_001362712.1:p.His163Gln
  • NP_001362713.1:p.His139Gln
  • NP_001362714.1:p.His163Gln
  • NP_001362715.1:p.His163Gln
  • NP_001362716.1:p.His163Gln
  • NP_001362717.1:p.His163Gln
  • NP_001362718.1:p.His68Gln
  • NP_001362719.1:p.His163Gln
  • NP_003492.2:p.His163Gln
  • NC_000004.11:g.8416073G>T
  • NM_003501.2:c.489C>A
Protein change:
H139Q
Molecular consequence:
  • NM_001101667.2:c.489C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375783.1:c.489C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375784.1:c.417C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375785.1:c.489C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375786.1:c.489C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375787.1:c.489C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375788.1:c.489C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375789.1:c.204C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375790.1:c.489C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003501.3:c.489C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005100820Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 17, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005100820.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.489C>A (p.H163Q) alteration is located in exon 5 (coding exon 4) of the ACOX3 gene. This alteration results from a C to A substitution at nucleotide position 489, causing the histidine (H) at amino acid position 163 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2024